Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 (HPMRS4)

Alias:
Glycosylphosphatidylinositol Biosynthesis Defect 10
Gpibd10
Hpmrs4
Hyperphosphatasia, with Mental Retardation Syndrome, Type 4
Hyperphosphatasia with Intellectual Disability Syndrome 4
Hyperphosphatasia with Mental Retardation Syndrome 4
Hyperphosphatasia with Mental Retardation Syndrome 6
Glycosylphosphatidylinositol Biosynthesis Defect 62
Gpibd62
Hpmrs6
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
超磷酸酶血症伴智力发育障碍4,又称糖基磷脂酰肌醇合成缺陷10,与超磷酸酶血症伴智力发育障碍6和肌张力减退有关。与超磷酸酶血症伴智力发育障碍4有关的重要基因是PGAP3(脂蛋白磷脂酶3)。附属组织包括骨髓和小脑,相关表型为肌张力减退和全球发育延迟。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
5
11

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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